MCID: ATM050
MIFTS: 15

Autoimmune Thyroid Disease 3

Categories: Genetic diseases

Aliases & Classifications for Autoimmune Thyroid Disease 3

MalaCards integrated aliases for Autoimmune Thyroid Disease 3:

Name: Autoimmune Thyroid Disease 3 53 71 28
Autoimmune Thyroid Disease, Susceptibility to, 3 53 13
Aitd3 53 71

Classifications:



External Ids:

OMIM 53 608175
MedGen 39 C1842444
SNOMED-CT via HPO 65 82119001

Summaries for Autoimmune Thyroid Disease 3

UniProtKB/Swiss-Prot : 71 Autoimmune thyroid disease 3: A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism.

MalaCards based summary : Autoimmune Thyroid Disease 3, is also known as autoimmune thyroid disease, susceptibility to, 3, and has symptoms including thyroiditis An important gene associated with Autoimmune Thyroid Disease 3 is TG (Thyroglobulin). Affiliated tissues include thyroid, b cells and t cells.

Description from OMIM: 608175

Related Diseases for Autoimmune Thyroid Disease 3

Symptoms & Phenotypes for Autoimmune Thyroid Disease 3

Clinical features from OMIM:

608175

Human phenotypes related to Autoimmune Thyroid Disease 3:

31
# Description HPO Frequency HPO Source Accession
1 thyroiditis 31 HP:0100646

Drugs & Therapeutics for Autoimmune Thyroid Disease 3

Search Clinical Trials , NIH Clinical Center for Autoimmune Thyroid Disease 3

Genetic Tests for Autoimmune Thyroid Disease 3

Genetic tests related to Autoimmune Thyroid Disease 3:

# Genetic test Affiliating Genes
1 Autoimmune Thyroid Disease 3 28 TG ZFAT

Anatomical Context for Autoimmune Thyroid Disease 3

MalaCards organs/tissues related to Autoimmune Thyroid Disease 3:

38
Thyroid, B Cells, T Cells

Publications for Autoimmune Thyroid Disease 3

Variations for Autoimmune Thyroid Disease 3

ClinVar genetic disease variations for Autoimmune Thyroid Disease 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TG NM_003235.4(TG): c.5995C> T (p.Arg1999Trp) single nucleotide variant risk factor rs2076740 GRCh37 Chromosome 8, 133984058: 133984058
2 TG NM_003235.4(TG): c.2200T> G (p.Ser734Ala) single nucleotide variant risk factor rs180223 GRCh37 Chromosome 8, 133900252: 133900252
3 TG NM_003235.4(TG): c.3082A> G (p.Met1028Val) single nucleotide variant risk factor rs853326 GRCh37 Chromosome 8, 133909974: 133909974
4 TG NM_003235.4(TG): c.-1623A> G single nucleotide variant risk factor rs180195 GRCh37 Chromosome 8, 133877623: 133877623
5 ZFAT ZFAT1, IVS9, A-T single nucleotide variant risk factor

Expression for Autoimmune Thyroid Disease 3

Search GEO for disease gene expression data for Autoimmune Thyroid Disease 3.

Pathways for Autoimmune Thyroid Disease 3

GO Terms for Autoimmune Thyroid Disease 3

Sources for Autoimmune Thyroid Disease 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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